MCRS1

Chr 12

microspherule protein 1

Also known as: ICP22BP, INO80Q, MCRS2, MSP58, P78

NCBI Gene: 10445ENSG00000187778UniProt: Q96EZ8OMIM: 609504

Enables RNA binding activity and telomerase inhibitor activity. Involved in several processes, including chromatin remodeling; positive regulation of protein localization to nucleolus; and regulation of nucleobase-containing compound metabolic process. Located in cytoplasm; nuclear body; and nucleolus. Part of Ino80 complex; MLL1 complex; and NSL complex. [provided by Alliance of Genome Resources, Apr 2025]

OMIMResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
4
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.47
LOEUF
—
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.47LOEUF
pLI 0.166
Z-score 3.69
OE 0.25 (0.14–0.47)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
2.20Z-score
OE missense 0.64 (0.57–0.72)
187 obs / 292.8 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.25 (0.14–0.47)
0≤0.351.4
Missense OE?0.64 (0.57–0.72)
0≤0.61.4
Synonymous OE?1.05
0≤1.21.6
LoF obs/exp: 7 / 28.1Missense obs/exp: 187 / 292.8Syn Z: -0.46

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

MCRS1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients